Andrea Anderson

The Children's Mercy Research Institute is using exome sequencing, genome sequencing, and other methods to diagnose and study rare pediatric conditions in underserved patients.

Test Summary

Nearly 3,500 patients were referred to the Roberts Individualized Medical Genetics Center for exome sequencing or other testing during the clinical program's first four years.

The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.

Since 2016, the VHA has routinely profiled molecular features in advanced cancers from vets in its care, even in rural locales, though challenges remain.

Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.

A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.

While trials targeting actionable mutations are showing promise in some cancer cases, experts say such trials likely need to account for tumor heterogeneity.

A Counsyl study suggests that just half of individuals go through with insurance-mandated pretest genetic counseling, paying out of pocket or canceling the test instead.